Canonical Allele Identifier: CA1825495767

Gene: CYP11B1 GML

Linked Data

• dbSNP Id: rs1466562634

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142874370T>G , CM000670.2:g.142874370T>G	GRCh38
NC_000008.10:g.143955786T>G , CM000670.1:g.143955786T>G	GRCh37
NC_000008.9:g.143952788T>G	NCBI36
NG_007954.1:g.10451A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292427.10:c.*3A>C (CYP11B1) MANE Select	ENSP00000292427.5:n.*3A>C
ENST00000292427.8:c.*3A>C (CYP11B1)	ENSP00000292427.4:n.*3A>C
ENST00000314111.4:n.1712A>C (CYP11B1)
ENST00000377675.3:c.*3A>C (CYP11B1)	ENSP00000366903.3:n.*3A>C
ENST00000517471.5:c.*3A>C (CYP11B1)	ENSP00000428043.1:n.*3A>C
ENST00000519285.5:c.549A>C (CYP11B1)	ENSP00000430144.1:n.549A>C
ENST00000522728.5:c.181+33145T>G (GML)	ENSP00000430799.1:n.181+33145T>G
NM_000497.3:c.*3A>C (CYP11B1)	NP_000488.3:n.*3A>C
NM_001026213.1:c.*3A>C (CYP11B1)	NP_001021384.1:n.*3A>C
XM_011516870.1:c.1753A>C (CYP11B1)	XP_011515172.1:p.Thr585Pro
XM_011516871.1:c.1684A>C (CYP11B1)	XP_011515173.1:p.Thr562Pro
XM_011516872.1:c.1675A>C (CYP11B1)	XP_011515174.1:p.Thr559Pro
XM_011516873.1:c.*3A>C (CYP11B1)	XP_011515175.1:n.*3A>C
XM_011516874.1:c.*3A>C (CYP11B1)	XP_011515176.1:n.*3A>C
XM_011516875.1:c.1492A>C (CYP11B1)	XP_011515177.1:p.Thr498Pro
XM_011516876.1:c.*3A>C (CYP11B1)	XP_011515178.1:n.*3A>C
XM_011516970.1:c.214+33145T>G (GML)	XP_011515272.1:n.214+33145T>G
NM_000497.4:c.*3A>C (CYP11B1) MANE Select	NP_000488.3:n.*3A>C